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MACS syndrome (macrocephaly, alopecia, cutis laxa & scoliosis syndrome)
Pathology:
- disorder of elastic tissue
Genetics:
- autosomal-recessive
- associated with defects in RIN2
Clinical manifestations:
- sagging skin
Complications:
- occasionally, life-threatening visceral complications
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 613075
References
OMIM :accession 613075